Synthetic and sequencing-based approaches to high-throughput genetic analysis

High-throughput sequencing and rare genetic diseases.

High-throughput sequencing has drastically changed the research of genes responsible for genetic disorders and is now gradually introduced as an additional genetic diagnostic testing in clinical practice. The current debates on the emerging technical, medical and ethical issues as well as the potential optimum use of the available technology are discussed.

High - throughput sequencing - based waterbird diet analysis : application to wintering

DNA-Based Faecal Dietary Analysis: A Comparison of qPCR and High Throughput Sequencing Approaches

The genetic analysis of faecal material represents a relatively non-invasive way to study animal diet and has been widely adopted in ecological research. Due to the heterogeneous nature of faecal material the primary obstacle, common to all genetic approaches, is a means to dissect the constituent DNA sequences. Traditionally, bacterial cloning of PCR amplified products was employed; less commo...

Wavelet-based Genetic Association Analysis of Functional Phenotypes Arising from High-throughput Sequencing Assays.

Understanding how genetic variants influence cellular-level processes is an important step toward understanding how they influence important organismal-level traits, or "phenotypes," including human disease susceptibility. To this end, scientists are undertaking large-scale genetic association studies that aim to identify genetic variants associated with molecular and cellular phenotypes, such ...

Recent Advances in High Throughput Sequencing Analysis

High-throughput genomic technology has enabled us to screen the entire genome and generate hypotheses at relatively low costs. One of the driving forces in highthroughput genomic technology is high-throughput sequencing (HTS).With its rapid development and affordability, HTS has quickly become the go-to choice for interrogating the entire genome. The analysis methodology development for HTS has...